论文部分内容阅读
目的优化荧光原位杂交(fluorescence in situ hybridization,FISH)技术,探讨FISH在快速诊断羊水间期细胞常见染色体异常的临床应用。方法改良FISH操作方法与探针用量,对510例孕妇羊水样本同时进行FISH快速产前诊断和常规细胞培养核型分析。结果 510例羊水样本中,FISH检测出了10例异常,其中7例21-三体、1例18-三体、1例45,X、1例47,XXX,与染色体核型分析结果相一致。结论改良后的FISH技术准确性与特异性与原方法相当,且节约成本。FISH技术可应用于临床快速产前诊断常见染色体非整倍体异常。
Objective To optimize the fluorescence in situ hybridization (FISH) technique and investigate the clinical application of FISH in the rapid diagnosis of common chromosomal abnormalities in amniotic fluid. Methods The method of FISH and the dosage of probe were modified. The prenatal diagnosis of FISH and the routine cell culture karyotype analysis of 510 pregnant women with amniotic fluid samples were performed. Results Of the 510 cases of amniotic fluid samples, 10 cases were detected by FISH. Among them, 21 cases of 21 cases trisomy, 1 case of 18 trisomy, 1 case of 45 cases of X, 1 case of 47 cases of case X and XXX cases were consistent with the results of chromosome karyotype analysis . Conclusion The accuracy and specificity of the improved FISH technique are equivalent to those of the original method and save the cost. FISH technology can be applied to clinical rapid prenatal diagnosis of common chromosomal aneuploidy abnormalities.